Tapping into the brain's electrical impulse signals may soon reveal why neurological functions short-circuit in cases of epilepsy, say researchers at Baylor College of Medicine.
The departments of neurology, molecular and human genetics, and the Human Genome Sequencing Center at Baylor received a $4.5 million research grant from the National Institutes of Health to profile the sequence of genes in patients with epilepsy. Furthermore, the four-year study could impact the treatment of other disorders, according to Dr. James D. Watson, who won the 1962 Nobel Prize in Physiology or Medicine for his discovery of DNA's molecular structure.
"This project is bound to generate big dividends toward understanding epilepsy," said Watson, a founder of the Human Genome Project and chancellor of Cold Spring Harbor Laboratory. "I already look forward to its extension to other serious mental disease."
The "Human Channelopathy Project" will harness the high throughput ability of Baylor's Human Genome Sequencing Center to screen all 250 ion channel genes in patients with neurological disorders, identifying those with mutations at an extremely rapid rate. Mutations in genes for ion channels can alter electrical signaling in nerves, heart and muscle.
A team of BCM neurologists, geneticists and neuroscientists will work to identify the novel mutations, test the defective ion channels and determine their link to various forms of epilepsy.
"Some channel gene mutations are linked to severe mental or neurological disorders, and a few can even predispose to sudden unexpected death," said Dr. Jeffrey Noebels, lead investigator and BCM professor of neurology. "Our research will put us on a faster track to more precise diagnosis and better medicine for each patient we see in the clinic."
Inherited defects in ion channel genes form the basis for a large number of brain disorders, including epilepsy, episodic movement disorders and cardiac arrhythmias. In rare instances, a mutation in an ion channel gene has been found to cause epilepsy within several members of a family. Little is known about "sporadic" cases - patients with no family history of the disorder - therefore, the study will focus on these individuals to determine if they also possess defective ion channels and determine how the channels alter brain function.
"The ability to rapidly sequence large numbers of genes in individuals is the next exciting stage in realizing the broad medical promise of the human genome project to advance health care - that is, translating gene information into personalized diagnosis and therapy for patients with unexplained disease," said Dr. Richard Gibbs, director of the Human Genome Sequencing Center at Baylor.
The BCM team also includes Dr. Dan Burgess and Dr. Alica Goldman, both assistant professors of neurology, as well as Dr. Suzanne Leal, assistant professor of molecular and human genetics.